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3
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3
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epm2a
- The EPM2A gene provides instructions for making a protein called laforin. Although this protein is active in cells throughout the body, it appears to play ...
- ... can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide ... limited to the nervous system.Mutations in the EPM2A gene prevent cells from making functional laforin, while ...
- ... degradation, including laforin (which is produced from the EPM2A gene). The interaction between malin and laforin likely ... Gentry MS, Worby CA, Dixon JE. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates ...
